Discussions By Condition: I cannot get a diagnosis.

Still no answers

My son is 5 years old (will be 6 in December). He weighs 40 lbs no finally but was stuck at 35 lbs for a year. His hair falls out in clumps. Dr said maybe ring worm on the scalp so gave me liquid meds for it. Hasn't done anything. Thryoid testing in July showed elevated levels and August levels were back to normal so the Dr won't retest. He has been so sick off and on for his whole life. He has bowel issues that cause him constipation most of the time so he still poops his pants out of fear of the pain of pooping in the potty. Dr prescribed meds for that but after one dose now he has diarrhea that hasn't stopped for almost 2 weeks now. He is also so hungry but then I fix him something to eat and after a couple bites he is full. He has been having wetting accidents often as well even while at school. His mood has been changing too, very overly sensitive, he is normally all drama anyways but he is really acting like he is having a nervous breakdown or something. It is just one of those situations where you know as the mom something isn't right and worry they just aren't finding it.

Medical history: Born 4 weeks early weighing 8 lbs 9 oz. 21 3/4" long. Jaundice not to bad. Breastfed but also had formula supplemented. Was switched to just formula at 3 months when I had surgery and lost my milk supply. We had to try 5 different formulas and he couldn't keep them down, refused to take them at all. He grew just slowly. Developmentally he hit milestones on time. At 2 months he developed thrush. 2 weeks later he got Croup. Took until he was about 6 months old to get rid of both he was on multiple antibiotics for the Croup and steriods but that would just cause the thrush to be worse again. Once he hit a year it was like he just stopped growing. He would get the flu often, Croup, had to have a nebulizer at home for his asthma and have frequent attacks. Since then it has been him getting one cold or flu or tummy virus after another. He is always falling down and getting hurt and bruises easy. Just don't know what to do. The Dr's can't find anything wrong other than constipation and says it could all just be because of anxiety and stress with starting kindergarten this year but I fear more to it as we have a family history of cancers and diabetes at young ages.

The first idea that jumps to my mind is Thymic Aplasia. It is a congenital immunodeficiency where both the thymus and the parathyroids fail to develop properly due to due to defects in the third or fourth pharyngeal pouches. This will make him particularly susceptible to fungal (particularly thrush) and viral infections, and may be trickier for a pediatrician to pinpoint than the other common childhood diseases. I would suggest that you attempt to have his T-cell count checked, you may have already had this done as part of routine bloodwork. With this condition, T-cell counts can be profoundly low, which should be a clue. However, antibody production may be decreased or it may be normal, which sometimes required repeated testing and someone who knows where to look. I would also suggest that you have someone check his calcium level, as when this condition is diagnosed, hypocalcemia due to hypoparathyroidism is often found. Some patients may have a noticeable tremor due to this lack of calcium. This was just a quick thought, I urge you to take it up with your physician.